NP_001002080.1

Ensembl ID:
ENSDARG00000010640
Description:
solute carrier family 12 member 2 isoform 1 [Source:RefSeq peptide;Acc:NP_001002080]
Human Orthologue:
SLC12A2
Human Description:
solute carrier family 12 (sodium/potassium/chloride transporters), member 2 [Source:HGNC Symbol;Acc:
Mouse Orthologue:
Slc12a2
Mouse Description:
solute carrier family 12, member 2 Gene [Source:MGI Symbol;Acc:MGI:101924]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16350 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa16350
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000018425 Nonsense 577 865 15 23
ENSDART00000127372 Nonsense 577 849 15 22
Genomic Location (Zv9):
Chromosome 10 (position 16869622)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 16366317
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
NNNNNNNNAGTGATGCGTTTGATTTTCAGTATGGTGTTGTCATTCTCAGACTG[C/T]GAGAGGGACTTGATATTTCTCACATTCAAGGTCAAGGTAYAGTCCTGWAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link